Variant report

Variant	rs4085300
Chromosome Location	chr7:40891126-40891127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10231596	1.00[CEU][hapmap];0.82[YRI][hapmap];0.99[EUR][1000 genomes]
rs10237052	0.99[EUR][1000 genomes]
rs10246441	0.85[EUR][1000 genomes]
rs10255986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10263468	0.81[ASN][1000 genomes]
rs10266350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10268023	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12019351	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs12538907	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs12538933	0.87[EUR][1000 genomes]
rs12538949	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs12538965	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs17688924	0.86[ASN][1000 genomes]
rs17714442	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1859845	0.85[ASN][1000 genomes]
rs1921753	0.99[EUR][1000 genomes]
rs1921754	0.99[EUR][1000 genomes]
rs1921756	0.86[EUR][1000 genomes]
rs1921757	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs2005766	0.99[EUR][1000 genomes]
rs28583134	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28621645	0.99[EUR][1000 genomes]
rs2876979	1.00[CEU][hapmap];0.82[YRI][hapmap];0.99[EUR][1000 genomes]
rs3801239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4265100	0.99[EUR][1000 genomes]
rs4425648	0.99[EUR][1000 genomes]
rs4720378	0.99[EUR][1000 genomes]
rs4720379	0.99[EUR][1000 genomes]
rs4720380	0.99[EUR][1000 genomes]
rs4720381	0.98[EUR][1000 genomes]
rs4723982	0.99[EUR][1000 genomes]
rs67369140	0.88[EUR][1000 genomes]
rs6952729	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6952818	0.98[EUR][1000 genomes]
rs6952995	0.98[EUR][1000 genomes]
rs6957123	1.00[CEU][hapmap];0.82[YRI][hapmap];0.99[EUR][1000 genomes]
rs6963162	0.99[EUR][1000 genomes]
rs6970936	0.86[EUR][1000 genomes]
rs732890	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs758010	0.99[EUR][1000 genomes]
rs7777500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7808121	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs7808304	0.99[EUR][1000 genomes]
rs7808678	0.99[EUR][1000 genomes]
rs7809981	0.83[EUR][1000 genomes]
rs9639838	1.00[CEU][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830972	chr7:40814709-40945917	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40880200-40905400	Weak transcription	HSMMtube	muscle
2	chr7:40884200-40898800	Weak transcription	NHEK	skin
3	chr7:40884600-40899200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:40889600-40898600	Weak transcription	HMEC	breast
5	chr7:40890000-40894200	Weak transcription	Aorta	Aorta
6	chr7:40890000-40896600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:40890000-40919400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:40890200-40906200	Weak transcription	Osteobl	bone

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